Wikimd logo

W8MD Diet | COVID-19 portal | Vitamin D | Vaccine | Keto

WikiMD is the world's largest medical encyclopedia with
15,647 pages, 4,131,585 edits & 37,484,346 views.

Free unbiased diet, health and wellness info!

Congenital thrombotic thrombocytopenic purpura

From WikiMD's free health, diet & wellness encyclopedia
Jump to navigation Jump to search

Other Names: TTP, congenital; Thrombotic thrombocytopenic purpura, familial; Microangiopathic hemolytic anemia; Upshaw-Schulman syndrome; USS; Schulman-Upshaw syndrome; Upshaw factor, deficiency of; Microangiopathic hemolytic anemia, congenital; Thrombotic microangiopathy, familial; Thrombotic thrombocytopenic purpura, congenital

Congenital thrombotic thrombocytopenic purpura (congenital TTP) is a blood disorder in which blood clots form in the small blood vessels throughout the body.

Thrombotic Thrombocytopenic Purpura (TTP).jpg


Congenital or inherited TTP represents less than 5% of all cases of TTP and the annual incidence is estimated at less than 1/1,000,000.


Mutations in the ADAMTS13 gene cause the familial form of thrombotic thrombocytopenic purpura. The ADAMTS13 gene provides instructions for making an enzyme that is involved in the normal process of blood clotting. Mutations in this gene lead to a severe reduction in the activity of this enzyme. The acquired form of thrombotic thrombocytopenic purpura also results from a reduction in ADAMTS13 enzyme activity; however, people with the acquired form do not have mutations in the ADAMTS13 gene. Instead, their immune systems make specific proteins called autoantibodies that block the activity of the enzyme.

A lack of ADAMTS13 enzyme activity disrupts the usual balance between bleeding and clotting. Normally, blood clots form at the site of an injury to seal off damaged blood vessels and prevent excess blood loss. In people with thrombotic thrombocytopenic purpura, clots form throughout the body as platelets bind together abnormally and stick to the walls of blood vessels. These clots can block small blood vessels, causing organ damage and the other features of thrombotic thrombocytopenic purpura.

Researchers believe that other genetic or environmental factors may contribute to the onset of signs and symptoms of thrombotic thrombocytopenic purpura. In people with reduced ADAMTS13 enzyme activity, factors such as pregnancy, surgery, and infection may trigger abnormal blood clotting and its associated complications.


Autosomal recessive inheritance, a 25% chance

The familial form of thrombotic thrombocytopenic purpura is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


Signs and symptoms typically develop in infancy or early childhood, but in some cases they do not develop until adulthood, particularly during pregnancy in women or after an infection or vaccination. Signs and symptoms generally are due to hemolytic anemia, low platelets (thrombocytopenia), and neurologic dysfunction. Symptoms of anemia can include fatigue, paleness, jaundice, shortness of breath, and a rapid heart rate. Widespread thrombosis (abnormal clotting) can lead to problems with the nervous system (such as personality changes, headaches, confusion, and seizures), abnormal kidney function, heart problems, and gastrointestinal problems. Signs and symptoms often recur on a regular basis but the severity and frequency varies.


Tests that may be ordered include:


Treatment may involve plasma exchange (also called plasmapheresis) for acute episodes, and prophylactic plasma therapy for those with chronic disease. Women with congenital TTP should receive pregnancy counseling in order to prepare for management during pregnancy. Regular plasma infusions are needed during pregnancy, in addition to close monitoring.


Most people respond well to treatment, which can prevent long-term organ complications due to relapses. However, life expectancy largely depends on severity and whether other underlying conditions are present. Without treatment, congenital TTP is fatal.

NIH genetic and rare disease info

Congenital thrombotic thrombocytopenic purpura is a rare disease.

Latest research - Congenital thrombotic thrombocytopenic purpura

Clinical trials


Congenital thrombotic thrombocytopenic purpura is part of WikiMD's free ^articles!

^Congenital thrombotic thrombocytopenic purpura (article) is provided for informational purposes only. No expressed or implied warranties as to the validity of content.
WikiMD is not a substitute for professional advice. By accessing and using WikiMD you agree to the terms of use.
Templates etc. when imported from Wikipedia, are licensed under CC BY-SA 3.0. See full disclaimers.
W8MD weight loss logo

Ad. Tired of being overweight?. W8MD's physician weight loss program can HELP. Tele medicine available